NDUFA4L2

NDUFA4L2
Identifiers
Aliases	NDUFA4L2, NUOMS, NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4-like 2, NDUFA4, mitochondrial complex associated like 2, NDUFA4 mitochondrial complex associated like 2, COXFA4L2, MISTRH
External IDs	MGI: 3039567 HomoloGene: 49614 GeneCards: NDUFA4L2
Gene location (Human) Chr. Chromosome 12 (human) Band 12q13.3 Start 57,234,903 bp End 57,240,715 bp
Gene location (Mouse) Chr. Chromosome 10 (mouse) Band 10|10 D3 Start 127,350,836 bp End 127,353,023 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right coronary artery skin of abdomen popliteal artery left coronary artery ascending aorta left ventricle right lobe of thyroid gland synovial joint vagina anterior pituitary Top expressed in esophagus belly cord lip calvaria ankle left lung lobe seminiferous tubule adrenal gland skin of abdomen skin of back More reference expression data BioGPS n/a
Gene ontology Molecular function cytochrome-c oxidase activity Cellular component mitochondrial respiratory chain complex IV Biological process proton transmembrane transport electron transport chain Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 56901 407790 Ensembl ENSG00000185633 ENSMUSG00000040280 UniProt Q9NRX3 Q4FZG9 RefSeq (mRNA) NM_020142 NM_001394960 NM_001394961 NM_001098789 RefSeq (protein) NP_064527 NP_001092259 Location (UCSC) Chr 12: 57.23 – 57.24 Mb Chr 10: 127.35 – 127.35 Mb PubMed search
Wikidata
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NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4-like 2 is a protein that in humans is encoded by the NDUFA4L2 gene. The NDUFA4L2 protein is a subunit of NADH dehydrogenase (ubiquinone), which is located in the mitochondrial inner membrane and is the largest of the five complexes of the electron transport chain.

Structure

The NDUFA4L2 gene is located on the long q arm of chromosome 12 at position 13.3 and it spans 5,860 base pairs. NDUFA4L2 is a subunit of the enzyme NADH dehydrogenase (ubiquinone), the largest of the respiratory complexes. The structure is L-shaped with a long, hydrophobic transmembrane domain and a hydrophilic domain for the peripheral arm that includes all the known redox centers and the NADH binding site. It has been noted that the N-terminal hydrophobic domain has the potential to be folded into an alpha helix spanning the inner mitochondrial membrane with a C-terminal hydrophilic domain interacting with globular subunits of Complex I. The highly conserved two-domain structure suggests that this feature is critical for the protein function and that the hydrophobic domain acts as an anchor for the NADH dehydrogenase (ubiquinone) complex at the inner mitochondrial membrane.

Function

The human NDUFA4L2 gene codes for a subunit of Complex I of the respiratory chain, which transfers electrons from NADH to ubiquinone. Initially, NADH binds to Complex I and transfers two electrons to the isoalloxazine ring of the flavin mononucleotide (FMN) prosthetic arm to form FMNH₂. The electrons are transferred through a series of iron-sulfur (Fe-S) clusters in the prosthetic arm and finally to coenzyme Q10 (CoQ), which is reduced to ubiquinol (CoQH₂). The flow of electrons changes the redox state of the protein, resulting in a conformational change and pK shift of the ionizable side chain, which pumps four hydrogen ions out of the mitochondrial matrix.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.